Cardiac Manifestations in Inherited Metabolic Diseases

Area of Science:

• Cardiology
• Genetics
• Metabolic Disorders

Background:

• Inherited metabolic diseases (IMDs) are rare genetic disorders affecting enzyme function.
• IMDs can cause multisystemic symptoms, with cardiac involvement being frequent.

Purpose of the Study:

• To review IMDs associated with cardiac manifestations.
• To delineate specific cardiac and systemic symptoms for diagnosis.

Main Methods:

• Narrative review of existing literature.
• Focus on genetic defects, metabolic pathways, and cardiac presentations.

Main Results:

• Common cardiac issues include hypertrophic, dilated, restrictive, and noncompacted cardiomyopathies.
• Rhythm disturbances (e.g., AV conduction abnormalities, arrhythmias) and valvular/coronary issues are prevalent.

Conclusions:

• Cardiac involvement is a significant feature of many IMDs.
• Understanding these cardiac manifestations alongside systemic symptoms is crucial for accurate diagnosis.